Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

BACKGROUND: Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemi...

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Main Authors: Rahman, Obaid Ur, Khawar, Nadeem, Khan, Muhammad Aman, Ahmed, Jawad, Khattak, Kamran, Al-Aama, Jumana Yousuf, Naeem, Muhammad, Jelani, Musharraf
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2013
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3655832/
https://ncbi.nlm.nih.gov/pubmed/23659685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-8-78
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